Genetics of von Willebrand Disease Type 1

Abstract

The most common form of von Willebrand disease (VWD) is reported to be type 1, accounting for as much as 80% of reported cases. With prevalence estimates as high as 1.6% in the general population, upwards of 4.5 million Americans may be affected. Unfortunately, VWD type 1 is also the most difficult type to diagnose. Despite the continuing progress in defining the genetic lesions responsible for VWD types 2 and 3, identification of the genetic determinants of VWD type 1 remains elusive. Herein the phenomenon known as VWD is summarized, the challenges associated with the diagnosis of type 1 VWD are described, and the role of genetic research in meeting these challenges is explored. The authors identify key gaps in the current genetics literature and suggest new avenues for future research. Lastly, they explore the role of nurses in this research and clinical endeavor. To the authors'knowledge, this review is the first to address these complex issues in nursing research.

The role of the specialist nurse in comprehensive care for bleeding disorders in Europe: An integrative review

“…16 HN provides education for PwBD on aspects of self-care including bleed recognition, prevention and management, home treatment and mitigating risks, 10,[17][18][19] as well as explaining the genetics of BDs. [20][21][22] Almost 90% of nurses in a global survey identified infusion training as part of their daily practice, with most saying the same of education. 23 This educational role is lifelong for PwBD and begins with diagnosis.…”